{{Rsnum
|rsid=1801159
|Gene=DPYD
|Chromosome=1
|position=97515839
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2048
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=DPYD
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 68.8 | 29.5 | 1.8
| HCB | 52.6 | 43.0 | 4.4
| JPT | 61.6 | 30.4 | 8.0
| YRI | 74.8 | 23.8 | 1.4
| ASW | 63.2 | 35.1 | 1.8
| CHB | 52.6 | 43.0 | 4.4
| CHD | 55.0 | 39.4 | 5.5
| GIH | 80.2 | 18.8 | 1.0
| LWK | 46.8 | 45.0 | 8.3
| MEX | 63.2 | 35.1 | 1.8
| MKK | 71.2 | 25.0 | 3.8
| TSI | 61.8 | 29.4 | 8.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=1801159
|allele=C
|frequency=0.19
|uid=1103675170701
|type=heterozygous_SNP
|hugo=DPYD
|ensembl gene=ENSG00000188641
|ensembl transcript=ENST00000370192
|sift=TOLERATED
|disease=Defects in DPYD are the cause of dihydropyrimidine dehydrogenase deficiency (DPYD deficiency) (MIM:274270); also known as hereditary thymine-uraciluria or familial pyrimidinemia. DPYD deficiency is a disease characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5- hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. This reaction includes stomatitis, Leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, and neurologic symptoms, progressing to semicoma.
}}

{{PharmGKB
|RSID=rs1801159
|Name_s=DPYD*5, DPYD:I543V, DPYD:A1627G
|Gene_s=DPYD
|Feature=Exon/NonSyn
|Evidence=PubMed ID:17848752; PubMed ID:9918128
|Annotation=The G allele of this SNP is associated with increased incidence of medium-severe nausea or vomiting, and with reduced leukocyte counts in gastric carcinoma and colon carcinoma patients treated with 5-fluorouracil. The elimination constant (Ke) for 5-fluorouracil was significantly lower in patients homozygous for the G allele.
|Drugs=fluorouracil
|Drug Classes=
|Diseases=Nausea; Vomiting
|Curation Level=Curated
|PharmGKB Accession ID=PA162355825
}}

{{PMID Auto
|PMID=19104657
|Title=Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.
|OA=1
}}

{{PMID Auto
|PMID=21362212
|Title=[Detection of single nucleotide polymorphisms of mthfr and dpyd genes in leukemia cell lines K562 and K562/A02].
}}

{{GET Evidence
|gene=DPYD
|aa_change=Ile543Val
|aa_change_short=I543V
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801159
|overall_frequency_n=1988
|overall_frequency_d=10758
|overall_frequency=0.184793
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=17
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=-4
|autoscore=3
|webscore=N
|n_web_uneval=10
|summary_short=Increase incidence of nausea with fluoruracil.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}